Journal Description
Diagnostics
Diagnostics
is an international, peer-reviewed, open access journal on medical diagnosis published semimonthly online by MDPI. The British Neuro-Oncology Society (BNOS), the International Society for Infectious Diseases in Obstetrics and Gynaecology (ISIDOG) and the Swiss Union of Laboratory Medicine (SULM) are affiliated with Diagnostics and their members receive a discount on the article processing charges.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, SCIE (Web of Science), PubMed, PMC, Embase, Inspec, CAPlus / SciFinder, and other databases.
- Journal Rank: JCR - Q2 (Medicine, General & Internal)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 20.7 days after submission; acceptance to publication is undertaken in 2.8 days (median values for papers published in this journal in the second half of 2023).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
- Companion journal: LabMed.
Impact Factor:
3.6 (2022);
5-Year Impact Factor:
3.7 (2022)
Latest Articles
Frequency and Demographic Analysis of Odontogenic Tumors in Three Tertiary Institutions: An 11-Year Retrospective Study
Diagnostics 2024, 14(9), 910; https://doi.org/10.3390/diagnostics14090910 (registering DOI) - 26 Apr 2024
Abstract
Odontogenic tumors (OTs) are distinct conditions that develop in the jawbones, exhibiting diverse histopathological features and variable clinical behaviors. Unfortunately, the literature on this subject in Saudi Arabia remains sparse, indicating a pressing need for more comprehensive data concerning the frequency, demographics, treatment
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Odontogenic tumors (OTs) are distinct conditions that develop in the jawbones, exhibiting diverse histopathological features and variable clinical behaviors. Unfortunately, the literature on this subject in Saudi Arabia remains sparse, indicating a pressing need for more comprehensive data concerning the frequency, demographics, treatment modalities, and outcomes of OTs. Objectives: The study aims to evaluate the frequency, demographic features, treatment, and outcomes of OTs across three tertiary medical centers. Methods and Material: OT cases were identified in King Abdulaziz Medical City (KAMC), King Fahad Medical City (KFMC), and Prince Sultan Military Medical City (PSMMC) from January 2010 to December 2021. Results: Ninety-two OT cases were identified from the anatomical pathology laboratories of three tertiary hospitals. KFMC contributed the highest number of cases (43.5%), followed by KAMC (30.4%) and PSMMC (26.1%). The median age of OT patients was 29 years (range: 5–83), with males representing more than half of the patients (56.5%). The mandible was the most frequent site of OT occurrence (72.5%), with ameloblastoma being the predominant OT (63.0%), followed by odontoma (19.5%). Among the treatment modalities, bone resection was employed the most (51.0%), followed by enucleation (25.6%). Notably, 11.5% of OT cases with available follow-up data exhibited recurrence, with ameloblastoma accounting for eight recurrent cases. Conclusions: Although OTs are relatively common in the jaws, they are rare in anatomical pathology laboratories and the general population. This study contributes valuable insights into the epidemiology characteristics, treatment trends, and recurrence rates of OTs in Saudi Arabia.
Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Oral and Maxillofacial Disease)
Open AccessArticle
Transfer Learning for Automatic Sleep Staging Using a Pre-Gelled Electrode Grid
by
Fabian A. Radke, Carlos F. da Silva Souto, Wiebke Pätzold and Karen Insa Wolf
Diagnostics 2024, 14(9), 909; https://doi.org/10.3390/diagnostics14090909 (registering DOI) - 26 Apr 2024
Abstract
Novel sensor solutions for sleep monitoring at home could alleviate bottlenecks in sleep medical care as well as enable selective or continuous observation over long periods of time and contribute to new insights in sleep medicine and beyond. Since especially in the latter
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Novel sensor solutions for sleep monitoring at home could alleviate bottlenecks in sleep medical care as well as enable selective or continuous observation over long periods of time and contribute to new insights in sleep medicine and beyond. Since especially in the latter case the sensor data differ strongly in signal, number and extent of sensors from the classical polysomnography (PSG) sensor technology, an automatic evaluation is essential for the application. However, the training of an automatic algorithm is complicated by the fact that the development phase of the new sensor technology, extensive comparative measurements with standardized reference systems, is often not possible and therefore only small datasets are available. In order to circumvent high system-specific training data requirements, we employ pre-training on large datasets with finetuning on small datasets of new sensor technology to enable automatic sleep phase detection for small test series. By pre-training on publicly available PSG datasets and finetuning on 12 nights recorded with new sensor technology based on a pre-gelled electrode grid to capture electroencephalography (EEG), electrooculography (EOG) and electromyography (EMG), an score across all sleep phases of 0.81 is achieved (wake 0.84, N1 0.62, N2 0.81, N3 0.87, REM 0.88), using only EEG and EOG. The analysis additionally considers the spatial distribution of the channels and an approach to approximate classical electrode positions based on specific linear combinations of the new sensor grid channels.
Full article
(This article belongs to the Special Issue Deep Learning Applications in Healthcare Wearable Devices)
Open AccessReview
The Role of Arthroscopy in Contemporary Glenoid Fossa Fracture Fixation
by
Byron Chalidis, Polychronis P. Papadopoulos, Pericles Papadopoulos and Charalampos Pitsilos
Diagnostics 2024, 14(9), 908; https://doi.org/10.3390/diagnostics14090908 (registering DOI) - 26 Apr 2024
Abstract
Glenoid fossa fractures are rare injuries accounting for 10 to 29% of all intra-articular scapula fractures. They are usually the result of high-energy trauma, and concomitant injuries are not uncommon. Patients with glenoid fractures are admitted with shoulder pain and restricted range of
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Glenoid fossa fractures are rare injuries accounting for 10 to 29% of all intra-articular scapula fractures. They are usually the result of high-energy trauma, and concomitant injuries are not uncommon. Patients with glenoid fractures are admitted with shoulder pain and restricted range of motion. Although shoulder plain radiographs could establish the diagnosis, a computed tomography scan is necessary to adequately define the fracture pattern and characteristics. The most commonly used classification system is that of Ideberg (modified by Goss), which includes five glenoid fossa fracture types according to the location, extension, and complexity of the lesion. Articular surface displacement and step-off are the most important factors that should be taken under consideration when deciding for conservative or surgical management. Operative treatment includes open reduction and internal fixation through a posterior or anterior approach depending on fracture morphology and displacement. However, open surgical techniques are related to extensive soft-tissue disruption, risk of neurovascular injury, and inadequate exposure of the entire glenoid cavity. Introduction of arthroscopy could facilitate better visualization of the glenoid articular surface and improved fracture reduction. However, it is a technically demanding procedure with many challenges and pitfalls. The aim of this review is to summarize the current evidence regarding the treatment of glenoid fossa fractures and present the beneficial effect of arthroscopy in improving the quality of fracture fixation and overall functional outcomes.
Full article
(This article belongs to the Special Issue Arthroscopy Techniques in Diagnosis and Treatment)
Open AccessInteresting Images
Impressive Response to TANDEM Peptide Receptor Radionuclide Therapy with 177Lu/225AcDOTA-LM3 Somatostatin Receptor Antagonist in a Patient with Therapy-Refractory, Rapidly Progressive Neuroendocrine Neoplasm of the Pancreas
by
Elisabetta Perrone, Kriti Ghai, Aleksandr Eismant, Mikkel Andreassen, Seppo W. Langer, Ulrich Knigge, Andreas Kjaer and Richard P. Baum
Diagnostics 2024, 14(9), 907; https://doi.org/10.3390/diagnostics14090907 (registering DOI) - 26 Apr 2024
Abstract
The present report describes the history of a 58-year-old woman with a rapidly progressing neuroendocrine pancreatic tumor (initially G2) presenting with extensive liver, bone, and lymph node metastases. Previous treatments included chemotherapy, hemithyroidectomy for right lobe metastasis, Peptide Receptor Radionuclide Therapy (PRRT) with
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The present report describes the history of a 58-year-old woman with a rapidly progressing neuroendocrine pancreatic tumor (initially G2) presenting with extensive liver, bone, and lymph node metastases. Previous treatments included chemotherapy, hemithyroidectomy for right lobe metastasis, Peptide Receptor Radionuclide Therapy (PRRT) with [177Lu]Lu-DOTATATE, Lanreotide, Everolimus, and liver embolization. Due to severe disease progression, after a liver biopsy revealing tumor grade G3, PRRT with the somatostatin receptor antagonist LM3 was initiated. [68Ga]GaDOTA-LM3 PET/CT showed intense tracer uptake in the liver, pancreatic tumor, lymph nodes, and bone metastases. Three TANDEM-PRRT cycles using [177Lu]LuDOTA-LM3 and [225Ac]AcDOTA-LM3, administered concurrently, resulted in significant improvement, notably in liver metastases, hepatomegaly reduction, the complete regression of bone and lymph node metastases, and primary tumor improvement. Partial remission was confirmed by positron emission tomography/computed tomography, chest–abdomen–pelvis contrast-enhanced computed tomography, and magnetic resonance of the abdomen, with marked clinical improvement in pain, energy levels, and quality of life, enabling full resumption of physical activity.
Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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Open AccessArticle
Comprehensive Genomic Studies on the Cell Blocks of Pancreatic Cancer
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Ricella Souza da Silva, Maria João Pina, Luís Cirnes, Luís Gouveia, André Albergaria and Fernando Schmitt
Diagnostics 2024, 14(9), 906; https://doi.org/10.3390/diagnostics14090906 (registering DOI) - 26 Apr 2024
Abstract
Pancreatic cancer is one of the deadliest malignancies, characterized by late-stage diagnosis and limited treatment options. Comprehensive genomic profiling plays an important role in understanding the molecular mechanisms underlying the disease and identifying potential therapeutic targets. Cell blocks (CBs), derived from EUS-FNA, have
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Pancreatic cancer is one of the deadliest malignancies, characterized by late-stage diagnosis and limited treatment options. Comprehensive genomic profiling plays an important role in understanding the molecular mechanisms underlying the disease and identifying potential therapeutic targets. Cell blocks (CBs), derived from EUS-FNA, have become valuable resources for diagnosis and genomic analysis. We examine the molecular profile of pancreatic ductal adenocarcinoma (PDAC) using specimens obtained from CB EUS-FNA, across a large gene panel, within the framework of next-generation sequencing (NGS). Our findings revealed that over half (55%) of PDAC CB cases provided adequate nucleic acid for next-generation sequencing, with tumor cell percentages averaging above 30%. Despite challenges such as low DNA quantification and degraded DNA, sequencing reads showed satisfactory quality control statistics, demonstrating the detection of genomic alterations. Most cases (84.6%) harbored at least one gene variant, including clinically significant gene mutation variants such as KRAS, TP53, and CDKN2A. Even at minimal concentrations, as long as the extracted DNA is of high quality, performing comprehensive molecular profiling on PDAC samples from cell blocks has remained feasible. This strategy has yielded valuable information about the diagnosis, genetic landscape, and potential therapeutic targets, aligning closely with a precision cytopathology approach.
Full article
(This article belongs to the Special Issue Cyto-Histological Correlations in Pathology Diagnosis)
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Open AccessCase Report
Case Report: A Sudden Thyroid-Related Death of a 15-Year-Old Girl
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Kálmán Rácz, Gábor Simon, Andrea Kurucz, Gergő Tamás Harsányi, Miklós Török, László Tamás Herczeg and Péter Attila Gergely
Diagnostics 2024, 14(9), 905; https://doi.org/10.3390/diagnostics14090905 (registering DOI) - 26 Apr 2024
Abstract
A 15-year-old young girl was found dead at home. There were no indications of any intervention or the application of force. On the previous day, she was admitted to hospital because of palpitations, fatigue, a headache, and a swollen neck. During a physical
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A 15-year-old young girl was found dead at home. There were no indications of any intervention or the application of force. On the previous day, she was admitted to hospital because of palpitations, fatigue, a headache, and a swollen neck. During a physical examination, a swollen thyroid gland and tachycardia were found. In the family history, her mother had thyroid disease. According to the laboratory values, she had elevated thyroid hormone levels. After administration of beta-blockers, the patient was discharged and died at home during the night. The parents denounced the hospital for medical malpractice; therefore, a Forensic Autopsy was performed. Based on the available clinical data, the autopsy, histological and toxicological results, the cause of death was stated as multiorgan failure due to disseminated intravascular coagulation (DIC) caused by the autoimmune Graves disease. The forensic assessment of the case does not reveal medical malpractice. Post-mortem diagnoses of thyroid disorders in cases of sudden death can be challenging. However, as the reported case illustrates, the diagnosis could be established after a detailed evaluation of antemortem clinical data, autopsy results, histology, and a toxicological examination.
Full article
(This article belongs to the Special Issue Forensic Diagnosis)
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Open AccessCase Report
Obscure Bleeding from a Metastatic Small Bowel Tumor Diagnosed Using Motorized Spiral Enteroscopy: A Case Study and a Literature Review
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Christian Banciu, Andreea Munteanu, Adrian Aprotosoaie, Ramona Fabian, Amadeus Dobrescu, Adrian Vaduva, Antonio Fabian, Irina Soica, Viviana Ivan and Laurentiu Sima
Diagnostics 2024, 14(9), 904; https://doi.org/10.3390/diagnostics14090904 (registering DOI) - 26 Apr 2024
Abstract
Small bowel tumors are relatively rare, representing only around 5% of all gastrointestinal neoplasms, with a progressively increasing incidence. Currently, there are no established guidelines for diagnostic approaches, screening procedures, or management strategies for small bowel tumors. We present here the case of
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Small bowel tumors are relatively rare, representing only around 5% of all gastrointestinal neoplasms, with a progressively increasing incidence. Currently, there are no established guidelines for diagnostic approaches, screening procedures, or management strategies for small bowel tumors. We present here the case of a patient with a rare type of metastatic tumor of the small bowel originating from primary lung adenocarcinoma who presented with abdominal pain, severe iron-deficiency anemia, and melena. The initial investigations, gastroscopy and colonoscopy, failed to identify the bleeding source. The obscure bleeding source and diagnosis were achieved through power motorized spiral enteroscopy (MSE), which allowed the visualization and biopsy of the tumor. Histopathological examination established the presence of a poorly differentiated non-mucinous adenocarcinoma originating from the lung. This case is reported to provide evidence of the efficiency of MSE in the diagnosis of small bowel tumors, with the method providing higher insertion depth in a reduced amount of time.
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(This article belongs to the Section Pathology and Molecular Diagnostics)
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Open AccessArticle
Three-Dimensional Assessment of Upper Airway Volume and Morphology in Patients with Different Sagittal Skeletal Patterns
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Silvia Izabella Pop, Ana Procopciuc, Bianca Arsintescu, Mihai Mițariu, Loredana Mițariu, Radu Vasile Pop, Diana Cerghizan and Kinga Mária Jánosi
Diagnostics 2024, 14(9), 903; https://doi.org/10.3390/diagnostics14090903 (registering DOI) - 26 Apr 2024
Abstract
Background: The relationship between respiratory function and craniofacial morphology has garnered significant attention due to its implications for upper airway and stomatognathic development. Nasal breathing plays a key role in craniofacial growth and dental positioning. This study investigated upper airway morphology and volume
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Background: The relationship between respiratory function and craniofacial morphology has garnered significant attention due to its implications for upper airway and stomatognathic development. Nasal breathing plays a key role in craniofacial growth and dental positioning. This study investigated upper airway morphology and volume differences among individuals with class I, II, and III skeletal anomalies. Methods: Ninety orthodontic patients’ CBCT scans were analyzed to assess the oropharynx and hypopharynx volumes. Skeletal diagnosis was established based on the cephalometric analysis. Results: A significant volume change in the oropharynx and pharynx was demonstrated when comparing class II with class III anomalies (p = 0.0414, p = 0.0313). The total volume of the pharynx was increased in class III anomalies. The area of the narrowest part of the pharynx (MIN-CSA) significantly decreased in classes I and II compared to class III (p = 0.0289, p = 0.0003). Patients with Angle class III anomalies exhibited higher values in the narrowest pharyngeal segment. Gender differences were significant in pharyngeal volumes and morphologies across malocclusion classes. Conclusions: The narrowest segment of the pharynx had the highest values in patients with Angle class III. The volume of the oropharynx was found to be greater in patients with Angle class III versus patients with Angle class II.
Full article
(This article belongs to the Special Issue Advances in Oral Imaging)
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Open AccessCommunication
Frugal and Translatable [15O]O2 Production for Human Inhalation with Direct Delivery from the Cyclotron to a Hybrid PET/MR
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Jeffrey Corsaut, Elmer Soto, Heather Biernaski, Michael S. Kovacs, Keith St. Lawrence and Justin W. Hicks
Diagnostics 2024, 14(9), 902; https://doi.org/10.3390/diagnostics14090902 (registering DOI) - 25 Apr 2024
Abstract
Oxygen-15 (β+, t1/2 = 122 s) radiolabeled diatomic oxygen, in conjunction with positron emission tomography, is the gold standard to quantitatively measure the metabolic rate of oxygen consumption in the living human brain. We present herein a protocol for safe and effective
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Oxygen-15 (β+, t1/2 = 122 s) radiolabeled diatomic oxygen, in conjunction with positron emission tomography, is the gold standard to quantitatively measure the metabolic rate of oxygen consumption in the living human brain. We present herein a protocol for safe and effective delivery of [15O]O2 over 200 m to a human subject for inhalation. A frugal quality control testing procedure was devised and validated. This protocol can act as a blueprint for other sites seeking to implement similar imaging programs.
Full article
(This article belongs to the Section Medical Imaging and Theranostics)
Open AccessArticle
Analysis of Choriocapillaris Reperfusion Topography Following Faricimab Treatment for Neovascular Age-Related Macular Degeneration in Non-Treatment-Naïve Patients
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Max Brinkmann, Pasquale Viggiano, Giacomo Boscia, Mathis Danckwardt, Evelyn Susantija, Tom Müller, Niccolò Castellino, Jakob Schweighofer, Francesco Boscia, Mario Damiano Toro and Yosuf El-Shabrawi
Diagnostics 2024, 14(9), 901; https://doi.org/10.3390/diagnostics14090901 (registering DOI) - 25 Apr 2024
Abstract
To assess changes in choriocapillaris (CC) vascular density surrounding macular neovascularization (MNV) in age-related macular degeneration (AMD) when transitioning from various anti-VEGF treatments to faricimab, using optical coherence tomography angiography (OCTA). 25 eyes of 22 individuals who underwent intravitreal faricimab injections for neovascular
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To assess changes in choriocapillaris (CC) vascular density surrounding macular neovascularization (MNV) in age-related macular degeneration (AMD) when transitioning from various anti-VEGF treatments to faricimab, using optical coherence tomography angiography (OCTA). 25 eyes of 22 individuals who underwent intravitreal faricimab injections for neovascular AMD with type 1 MNV were included. OCTA images were obtained prior to (T0), after one (T1), and after three faricimab injections (T2); Noteworthy changes occurred in the first ring at T2 in comparison to T0. The percentage of CC flow deficit (FD%), FD average area (FDa), and FD number (FDn) in 5 rings (R1-R5) surrounding the dark halo around the MNV were calculated. A reduction in FD% at T2 compared to T0 (50.5 ± 10.2% at T0, 46.4 ± 10.6% at T2; p = 0.020) was seen, indicating CC reperfusion. Additionally, we observed a reduction in the average FDa (140.2 ± 172.1% at T0, 93.7 ± 101.8% at T2; p = 0.029). Our study highlights an FD% after three consecutive faricimab injections. The most pronounced effect was observed in the first ring, directly adjacent to the dark halo, suggesting a partial CC reperfusion surrounding the MNV, potentially indicating disease regression.
Full article
(This article belongs to the Special Issue Medical Optical Imaging: Current Diagnostics, Therapeutic and Surgical Applications in Ophthalmology—Third Edition)
Open AccessCorrection
Correction: Raymann, J.; Rajalakshmi, R. GAR-Net: Guided Attention Residual Network for Polyp Segmentation from Colonoscopy Video Frames. Diagnostics 2023, 13, 123
by
Joel Raymann and Ratnavel Rajalakshmi
Diagnostics 2024, 14(9), 900; https://doi.org/10.3390/diagnostics14090900 (registering DOI) - 25 Apr 2024
Abstract
There was an error in the original publication [...]
Full article
(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)
Open AccessArticle
Reliability and Agreement Assessment of Sarcopenia Diagnosis through Comparison of Bioelectrical Impedance Analysis and Dual-Energy X-ray Absorptiometry
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Jung Hun Lee, Hee Jin Kim, Sanghun Han, Seong Jun Park, Myongheon Sim and Kang Hyun Lee
Diagnostics 2024, 14(9), 899; https://doi.org/10.3390/diagnostics14090899 - 25 Apr 2024
Abstract
A unified diagnostic criterion has yet to be established for sarcopenia. Therefore, we analyzed the reliability and validity of sarcopenia diagnosis using bioelectrical impedance analysis (BIA) compared with the gold standard, dual-energy X-ray absorptiometry (DEXA), and evaluated the predictive accuracy of BIA for
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A unified diagnostic criterion has yet to be established for sarcopenia. Therefore, we analyzed the reliability and validity of sarcopenia diagnosis using bioelectrical impedance analysis (BIA) compared with the gold standard, dual-energy X-ray absorptiometry (DEXA), and evaluated the predictive accuracy of BIA for diagnosis. The clinical trial, involving a total of 239 participants, was conducted between December 2018 and September 2019 on healthy volunteers without significant medical histories. The participants underwent health assessments, followed by sequential DEXA and BIA measurements. In both the low and normal appendicular skeletal muscle (ASM) groups, there were significant differences in the right arm, left arm, right leg, left leg, ASM, and ASM index (ASMI) between DEXA and BIA across all age groups (p < 0.05). BIA tended to overestimate compared to DEXA, but ASMI values for males and females were consistent with the criteria for sarcopenia. Bland–Altman analysis showed that each segment in both the low and normal ASM groups fell within the limits of agreement (LOA). The diagnosis of sarcopenia using BIA was significantly different from that using DEXA. However, it exhibited a significantly high correlation, fell within the LOA, and demonstrated high predictive accuracy. BIA can be considered an effective tool for diagnosing sarcopenia.
Full article
(This article belongs to the Special Issue Biomarkers and Clinical Imaging for Diagnosis, Prevention and Management of Muscle Decay)
Open AccessArticle
Environmental and Genetic Risk Factors in Developmental Dysplasia of the Hip for Early Detection of the Affected Population
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Judit A. Ramírez-Rosete, Alonso Hurtado-Vazquez, Antonio Miranda-Duarte, Sergio Peralta-Cruz, Ramiro Cuevas-Olivo, José Antonio Martínez-Junco, Rosalba Sevilla-Montoya, Berenice Rivera-Paredez, Rafael Velázquez-Cruz, Margarita Valdes-Flores, Claudia Rangel-Escareno, Gerardo J. Alanis-Funes, Laura Abad-Azpetia, Sacnicte G. Grimaldo-Galeana, Monica G. Santamaría-Olmedo and Alberto Hidalgo-Bravo
Diagnostics 2024, 14(9), 898; https://doi.org/10.3390/diagnostics14090898 - 25 Apr 2024
Abstract
Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide
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Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55–17.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2–4.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55–6.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12–6.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27–0.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources.
Full article
(This article belongs to the Special Issue Advanced Diagnosis and Management of Chronic Musculoskeletal Disorders)
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Open AccessArticle
Pulmonary Hypertension Detection Non-Invasively at Point-of-Care Using a Machine-Learned Algorithm
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Navid Nemati, Timothy Burton, Farhad Fathieh, Horace R. Gillins, Ian Shadforth, Shyam Ramchandani and Charles R. Bridges
Diagnostics 2024, 14(9), 897; https://doi.org/10.3390/diagnostics14090897 - 25 Apr 2024
Abstract
Artificial intelligence, particularly machine learning, has gained prominence in medical research due to its potential to develop non-invasive diagnostics. Pulmonary hypertension presents a diagnostic challenge due to its heterogeneous nature and similarity in symptoms to other cardiovascular conditions. Here, we describe the development
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Artificial intelligence, particularly machine learning, has gained prominence in medical research due to its potential to develop non-invasive diagnostics. Pulmonary hypertension presents a diagnostic challenge due to its heterogeneous nature and similarity in symptoms to other cardiovascular conditions. Here, we describe the development of a supervised machine learning model using non-invasive signals (orthogonal voltage gradient and photoplethysmographic) and a hand-crafted library of 3298 features. The developed model achieved a sensitivity of 87% and a specificity of 83%, with an overall Area Under the Receiver Operator Characteristic Curve (AUC-ROC) of 0.93. Subgroup analysis showed consistent performance across genders, age groups and classes of PH. Feature importance analysis revealed changes in metrics that measure conduction, repolarization and respiration as significant contributors to the model. The model demonstrates promising performance in identifying pulmonary hypertension, offering potential for early detection and intervention when embedded in a point-of-care diagnostic system.
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(This article belongs to the Special Issue Artificial Intelligence in Cardiology Diagnosis )
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Open AccessInteresting Images
Pseudokidney Sign in Gastric Cancer
by
Thomas Ferenc, Jelena Svetec Dvorski, Andro Matković, Maja Mijić, Eva Lovrić and Vinko Vidjak
Diagnostics 2024, 14(9), 896; https://doi.org/10.3390/diagnostics14090896 - 25 Apr 2024
Abstract
Pseudokidney sign (PKS) is a characteristic sonographic finding of an abnormal mass with a reniform appearance, and a hyperechoic central region surrounded by a hypoechoic area. It has been seldom documented in gastric cancer. A 75-year-old male patient presented with a palpable abdominal
[...] Read more.
Pseudokidney sign (PKS) is a characteristic sonographic finding of an abnormal mass with a reniform appearance, and a hyperechoic central region surrounded by a hypoechoic area. It has been seldom documented in gastric cancer. A 75-year-old male patient presented with a palpable abdominal resistance in the left upper abdominal quadrant and ultrasound evaluation revealed a well-vascularized mass presenting with PKS. Regional lymphadenopathy was also found, and the working diagnosis of gastric cancer was established. The suspected diagnosis was later verified endoscopically and on pathohistological examinations as gastric adenocarcinoma. Computed tomography staging also revealed distant metastases to the lungs, liver, and adrenal glands and abdominal lymphadenopathy. The PKS often indicates gastrointestinal pathology, and it may be seen in benign and malignant conditions due to gastrointestinal wall thickening. Therefore, additional diagnostic examinations are advised for a more definite diagnosis.
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(This article belongs to the Special Issue Advances in the Diagnostic Imaging of Gastrointestinal Diseases)
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Open AccessArticle
Revolutionizing Radiological Analysis: The Future of French Language Automatic Speech Recognition in Healthcare
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Mariem Jelassi, Oumaima Jemai and Jacques Demongeot
Diagnostics 2024, 14(9), 895; https://doi.org/10.3390/diagnostics14090895 - 25 Apr 2024
Abstract
This study introduces a specialized Automatic Speech Recognition (ASR) system, leveraging the Whisper Large-v2 model, specifically adapted for radiological applications in the French language. The methodology focused on adapting the model to accurately transcribe medical terminology and diverse accents within the French language
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This study introduces a specialized Automatic Speech Recognition (ASR) system, leveraging the Whisper Large-v2 model, specifically adapted for radiological applications in the French language. The methodology focused on adapting the model to accurately transcribe medical terminology and diverse accents within the French language context, achieving a notable Word Error Rate (WER) of 17.121%. This research involved extensive data collection and preprocessing, utilizing a wide range of French medical audio content. The results demonstrate the system’s effectiveness in transcribing complex radiological data, underscoring its potential to enhance medical documentation efficiency in French-speaking clinical settings. The discussion extends to the broader implications of this technology in healthcare, including its potential integration with electronic health records (EHRs) and its utility in medical education. This study also explores future research directions, such as tailoring ASR systems to specific medical specialties and languages. Overall, this research contributes significantly to the field of medical ASR systems, presenting a robust tool for radiological transcription in the French language and paving the way for advanced technology-enhanced healthcare solutions.
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(This article belongs to the Topic AI in Medical Imaging and Image Processing)
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Open AccessArticle
Association of Serum Levels and Immunohistochemical Labelling of Des-Gamma-Carboxy-Prothrombin in Patients Undergoing Liver Transplantation for Hepatocellular Carcinoma
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Suzanne Chabert, Samuele Iesari, Geraldine Dahlqvist, Mina Komuta, Pamela Baldin, Evaldo Favi and Laurent Coubeau
Diagnostics 2024, 14(9), 894; https://doi.org/10.3390/diagnostics14090894 - 25 Apr 2024
Abstract
Hepatocellular cancer (HCC) is one of the main reasons for liver transplantation (LT). Biomarkers, such as alpha-foetoprotein (AFP) and Des-gamma-carboxy-prothrombin (DCP), can be helpful in defining the recurrence risk post LT. This study aims to evaluate the association between the intensity of DCP
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Hepatocellular cancer (HCC) is one of the main reasons for liver transplantation (LT). Biomarkers, such as alpha-foetoprotein (AFP) and Des-gamma-carboxy-prothrombin (DCP), can be helpful in defining the recurrence risk post LT. This study aims to evaluate the association between the intensity of DCP immunohistochemical labelling and serum DCP levels in patients undergoing LT for HCC. We carried out a prospective monocentric study including patients who all underwent LT for cirrhosis between 2016 and 2018 and all fell under the Milan criteria. The accepted diagnostic criteria for HCC were contrast-enhanced imaging and histology. Thirty-nine patients were followed for a median of 21 months, with HCC lesions categorized into negative, focally positive, and diffusely positive groups based on DCP immunohistochemistry. The serum DCP levels were significantly higher in the positive groups (258 mAU/mL for the focally and 257 mAU/mL for the diffusely positive) than in the negative group (48 mAU/mL) (p = 0.005) at diagnosis and at the time of liver transplantation (220 mAU/mL for the diffuse positive group). Microvascular invasion (58.8% vs. 19.0% for the diffusely positive and negative groups, respectively, p < 0.001) and lesion size (20 mm in the diffusely labelled group versus 12 mm in the other groups, p = 0.002) were significantly correlated with DCP labelling. Late recurrence occurred only in the positive groups; in the negative group, it occurred within the first 3 months after transplantation. DCP labelling in liver lesions correlates with serum levels and a more aggressive tumour profile. Further investigation is needed to determine if highly DCP-labelled tumours allow for the better selection of high-risk patients before LT.
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(This article belongs to the Special Issue Diagnostic and Prognostic Markers in Liver Diseases)
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Clinical Implications of High-Sensitivity Troponin Elevation Levels in Non-ST-Segment Elevation Myocardial Infarction Patients: Beyond Diagnostics
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Constanza Bravo, Geovanna Vizcarra, Antonia Sánchez, Francisca Cárdenas, Juan Pablo Canales, Héctor Ugalde and Alfredo Parra-Lucares
Diagnostics 2024, 14(9), 893; https://doi.org/10.3390/diagnostics14090893 - 25 Apr 2024
Abstract
Standard troponin has long been pivotal in diagnosing coronary syndrome, especially Non-ST-Segment Elevation Myocardial Infarction (NSTEMI). The recent introduction of high-sensitivity troponin (hs-cTnI) has elevated it to the gold standard. Yet, its nuanced role in predicting angiographic lesions and clinical outcomes, notably in
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Standard troponin has long been pivotal in diagnosing coronary syndrome, especially Non-ST-Segment Elevation Myocardial Infarction (NSTEMI). The recent introduction of high-sensitivity troponin (hs-cTnI) has elevated it to the gold standard. Yet, its nuanced role in predicting angiographic lesions and clinical outcomes, notably in specific populations like obesity, remains underexplored. Aim: To evaluate the association between hs-cTnI magnitude in NSTEMI patients and angiographic findings, progression to acute heart failure, and its performance in obesity. Methods: Retrospective study of 208 NSTEMI patients at a large university center (2020–2023). Hs-cTnI values were assessed for angiographic severity, acute heart failure, and characteristics in the obese population. Data collected and diagnostic performance were evaluated using manufacturer-specified cutoffs. Results: 97.12% of patients had a single culprit vessel. Hs-cTnI elevation correlated with angiographic stenosis severity. Performance for detecting severe coronary disease was low, with no improvement using a higher cutoff. No association was found between hs-cTnI and the culprit vessel location. Hs-cTnI did not predict acute heart failure progression. In the obese population, hs-cTnI levels were higher, but acute heart failure occurred less frequently than in non-obese counterparts. Conclusions: In NSTEMI, hs-cTnI elevation is associated with significant stenosis, but not with location or acute heart failure. Obesity correlates with higher hs-cTnI levels but a reduced risk of acute heart failure during NSTEMI.
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(This article belongs to the Special Issue Diagnosis, Prognosis, and Management of Cardiovascular Disease)
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Validation of a New Duplex Real-Time Polymerase Chain Reaction for Chlamydia trachomatis DNA Detection in Ocular Swab Samples
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Joana da Felicidade Ribeiro Favacho, Keren Kariene Leite, Thiago Jacomasso, Aline Burda Farias, Luciano Chaves Franco Filho, Samara Tatielle Monteiro Gomes, Herald Souza dos Reis, Gardene Dourado Mota, Pedro Henrique de Caires Schluga, Walleyd Sami Tassi, Rita de Cássia Pontello Rampazzo, Sheila Kay West, Charlotte Ann Gaydos, Antonio José Ledo Alves da Cunha and Alexandre Dias Tavares Costa
Diagnostics 2024, 14(9), 892; https://doi.org/10.3390/diagnostics14090892 - 25 Apr 2024
Abstract
Trachoma is the world-leading infectious cause of preventable blindness and is caused by the bacteria Chlamydia trachomatis. In developing countries, diagnosis is usually based on clinical evaluation. Serological-based tests are cheaper than molecular-based ones, but the latter are more sensitive and specific.
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Trachoma is the world-leading infectious cause of preventable blindness and is caused by the bacteria Chlamydia trachomatis. In developing countries, diagnosis is usually based on clinical evaluation. Serological-based tests are cheaper than molecular-based ones, but the latter are more sensitive and specific. The present study developed a new duplex qPCR which concomitantly detects the C. trachomatis cryptic plasmid and the human 18S rRNA gene, with an LOD95% for C. trachomatis DNA of 13.04 genome equivalents per reaction. The new qPCR was tested using 50 samples from an endemic area and 12 from a non-endemic area that were previously characterized using direct immunofluorescence assay (DFA) and clinical evaluation. Among the 50 endemic samples, 3 were found to be positive by clinical evaluation (6%), 18 were found to be positive by DFA (36%), and 48 were found to be positive by qPCR (96%). Next, the new duplex qPCR was validated using 50 samples previously characterized by qPCR. Validation was carried out on a benchtop instrument (ABI7500) or on a portable point-of-care instrument (Q3-Plus), showing 95% specificity and 100% sensitivity. The ubiquitous presence of C. trachomatis DNA in samples from the endemic region confirms that constant monitoring is of paramount importance for the effective measurement of the elimination of trachoma. The newly developed duplex qPCR presented in this study, along with its validation in a portable qPCR system, constitutes important tools toward achieving this goal.
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(This article belongs to the Special Issue Microbiology Laboratory: Sample Collection and Diagnosis Advances)
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Peroral Pancreatoscopy-Guided Lithotripsy Compared with Extracorporeal Shock Wave Lithotripsy in the Management of Pancreatic Duct Stones in Chronic Pancreatitis: A Multicenter Retrospective Cohort Study
by
Keisuke Iwata, Takuji Iwashita, Tsuyoshi Mukai, Yuhei Iwasa, Mitsuru Okuno, Kensaku Yoshida, Akinori Maruta, Shinya Uemura, Ichiro Yasuda and Masahito Shimizu
Diagnostics 2024, 14(9), 891; https://doi.org/10.3390/diagnostics14090891 - 24 Apr 2024
Abstract
Background: Extracorporeal shock wave lithotripsy (ESWL) is a common treatment for pancreatic stones in chronic pancreatitis. In contrast, peroral pancreatoscopy-guided lithotripsy (POPS-L) remains underexplored, with limited comparative studies to ESWL. This study compared the treatment outcomes of disposable POPS-L tools and ESWL for
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Background: Extracorporeal shock wave lithotripsy (ESWL) is a common treatment for pancreatic stones in chronic pancreatitis. In contrast, peroral pancreatoscopy-guided lithotripsy (POPS-L) remains underexplored, with limited comparative studies to ESWL. This study compared the treatment outcomes of disposable POPS-L tools and ESWL for pancreatic stones. Methods: A retrospective analysis was conducted on 66 patients who had undergone pancreatic stone treatment at three institutions between 2006 and 2022. The treatment outcomes of POPS-L and ESWL were compared. Results: This study included 19 and 47 patients who had undergone POPS-L and ESWL, respectively. In a comparison between POPS-L and ESWL, the stone clearance rates were 78.9% vs. 70.2% (p = 0.55), while the procedure-related complication rates were 21% vs. 6.3% (p = 0.09). The median total session counts were 1 vs. 5 (p < 0.01). The cumulative stone recurrence rates were comparable in both groups. Multivariate analysis revealed no significant factors influencing the stone clearance rates, and the choice between POPS-L and ESWL did not affect the stone clearance rates. Conclusions: POPS-L and ESWL exhibited comparable treatment outcomes in terms of stone clearance, complications, and recurrence rates. Furthermore, POPS-L is advantageous due to the need for fewer sessions to achieve pancreatic stone clearance.
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(This article belongs to the Section Medical Imaging and Theranostics)
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